To investigate the functional role of <i>PDIA4</i>, <i>PDIA4</i>-knockdown human umbilical vein endothelial cells were generated, followed by cellular and transcriptomic analyses.<h4>Results</h4>A <i>de novo PDIA4</i> mutation (NM004911: c.1249G>A: p.V417I) was found in a patient with complex CHD. This evidence concerns the gene PDIA4 and coronary artery disorder.